The protein encoded by this gene is known to associate with hematopoietic cell-specific Lyn substrate 1, a substrate of Src family tyrosine kinases. It also interacts with the product of the polycystic kidney disease 2 gene, mutations in which are associated with autosomal-dominant polycystic kidney disease, and with the F-actin-binding protein, cortactin. It was earlier thought that this gene product is mainly localized in the mitochondria, however, recent studies indicate it to be localized in the cell body. Mutations in this gene result in autosomal recessive severe congenital neutropenia, also known as Kostmann disease. Two transcript variants encoding different isoforms have been found for this gene.
HAX1; HCLS1 associated protein X-1; HCLS1-associated protein X-1; HCLS1 (and PKD2) associated protein; HCLSBP1; HS1BP1; FLJ17042; FLJ18492; FLJ93803; HAX 1; Hax1a; HCLS1 and PKD2 associated protein; HCLS1 associated protein; HCLS1 associated protein X 1; HS 1 associated protein X 1; HS 1 binding protein; HS1 associating protein X 1; HS1 binding protein 1; HS1 binding protein; OTTHUMP00000034190; SCN3; HAX-1; HSP1BP-1; HS1-binding protein 1; HS1-associating protein X-1; zgc:92196